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CDH1: Options for Managing Cancer Risk

People with a CDH1 mutation have options for managing their cancer risk. Learn about the screening and prevention guidelines. Stay up to date by signing up for our community newsletter.

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Risk Management for People with Inherited Mutations

Researchers are studying the best way to manage cancer risk in people with mutations.

It's important for people with CDH1 mutations to choose a healthcare team with experience managing people at high risk. There are two main options for managing HDGC risk in people with mutations.

Diffuse hereditary

Hereditary diffuse (HDGC) is an aggressive type of cancer that can be hard to detect, as these cancers spread through the lining of the stomach rather than forming a mass. These cancers may also be referred to as "signet ring cell cancers" because of the way the cells look under a microscope.

Gastric cancer screening and prevention options

Researchers are studying the best way to manage cancer risk in people with mutations. 

Preventive gastrectomy

Preventive gastrectomy (also known as prophylactic or risk-reducing gastrectomy) involves surgery to remove the entire stomach before cancer can develop. The procedure is effective at lowering risk for stomach cancer, but can have a large impact on lifestyle, (such as eating habits, symptoms that happen with eating, and the ability to maintain your weight). It can also have an impact on overall health, (such as increased risk of vitamin and mineral deficiencies, increased risk of bone disease and other effects).

Upper endoscopy and random gastric biopsy

The goal of upper endoscopy (also called esophagogastroduodenoscopy or EGD) with both gastric biopsies is to try to find evidence of diffuse at its earliest and most curable . This screening is done under anesthesia. The endoscopist passes a scope with a video camera through the mouth into the stomach in order to get a close look. The endoscopist then passes a tiny instrument through the scope to take tissue samples from different spots within the stomach. These samples are sent to a pathologist to check them for cancer.
Experts do not all agree on how well this screening works for finding HDGC cancer in its earliest and most treatable .

In the News

Study : Lifetime cancer risks in people with an inherited mutation in CDH1

Expert guidelines

mutations are most strongly linked to a type of called signet ring cell carcinoma, or SRCC. Nearly all people with a mutation have an early of SRCC changes in the stomach ( 1A), but many will never develop advanced ( 1b or higher) during their lifetime. Because each person’s risk is different, guidelines recommend that decisions about screening and prevention be based on personal cancer history, family history and discussion with an experienced healthcare team.

Gastrectomy is recommended for people with any of the following:

a diagnosis of that is 1b or higher.
persistent signs and symptoms that may be associated with a higher of diagnosis not explaied by other medical conditions, including: weight loss, feeling full without eating a meal, anemia and abdominal pain.
certain findings on EGD that indicate an increased risk for higher-stage cancer.

For people who do not have any of the findings listed above, you should have a conversation with your healthcare team to decide which risk-management option is right for you.

This discussion should include the following:

input from specialists with experience managing CDH1-related cancer risk.
your personal preferences.
your medical history.
your family medical history.
the best age to begin surveillance, including whether surveillance should start before age 18 if personal or family history suggests a higher risk.

If the decision is made to continue surveillance with EGD and biopsy:

the procedure should be repeated every 6-12 months.
all people undergoing EGD should be tested for the bacteria, H. pylori and treated if positive.

Sources: NCCN Guidelines: Genetic/Familiar High-Risk Assessment: Colorectal, Endometrial, Esophageal, and Gastric; v.1 2026; Blair VR, McLeod M, Carneiro F, et al. Hereditary Diffuse Gastric Cancer: Updated Clinical Practice Guidelines. Lancet Oncol. 2020;21(8):e386-e397.

Breast cancer risk management

Below are the expert guidelines for breast cancer risk management.

Beginning Age	Recommendation	Additional Information
25	Learn to be aware of changes in your breasts.
25 (or earlier based on youngest age of breast cancer in the family)	Breast exam by doctor (also known as a clinical breast exam) every 6-12 months.	The guidelines recommend that people who have risk-reducing mastectomy continue to receive clinical breast exams.
30 (or earlier based on family history of breast cancer)	Yearly .
30	Discuss the benefits, risks and costs of yearly breast with and without contrast with your doctor.
No set age	Discuss with your doctor the benefits, risks and costs of risk-reducing mastectomy to lower the risk for breast cancer.	Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains. Clinical breast exam should be continued after risk-reducing mastectomy.
No set age	Discuss the benefits, risks and costs of medications to lower the risk for breast cancer with your doctor.	Tamoxifen or other estrogen-blocking drugs may lower breast cancer risk. Medications or vaccines are being studied in clinical trials.
75	Have a discussion with your doctor about whether to continue, stop or change breast screening.
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate; v.3 2026.

Other cancer screening and prevention

There isn’t enough research to show that people with a mutation benefit from extra screening or prevention for other types of cancer. Because of this, experts recommend following general population screening guidelines and considering your family history when managing these risks. National guidelines exist for screening the following cancers: